rs104894086
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 9.1 | Lipoid congenital adrenal hyperplasia (LCAH); treatment required |
| (A;G) | 3 | Carrier of a mutation for lipoid congenital adrenal hyperplasia (LCAH) |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a mutation for lipoid congenital adrenal hyperplasia (LCAH) |
| (T;T) | 9.1 | Lipoid congenital adrenal hyperplasia (LCAH); treatment required |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 38146068 |
| Gene | STAR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894086 |
| dbSNP (classic) | rs104894086 |
| ClinGen | rs104894086 |
| ebi | rs104894086 |
| HLI | rs104894086 |
| Exac | rs104894086 |
| Gnomad | rs104894086 |
| Varsome | rs104894086 |
| LitVar | rs104894086 |
| Map | rs104894086 |
| PheGenI | rs104894086 |
| Biobank | rs104894086 |
| 1000 genomes | rs104894086 |
| hgdp | rs104894086 |
| ensembl | rs104894086 |
| geneview | rs104894086 |
| scholar | rs104894086 |
| rs104894086 | |
| pharmgkb | rs104894086 |
| gwascentral | rs104894086 |
| openSNP | rs104894086 |
| 23andMe | rs104894086 |
| SNPshot | rs104894086 |
| SNPdbe | rs104894086 |
| MSV3d | rs104894086 |
| GWAS Ctlg | rs104894086 |
| Max Magnitude | 9.1 |
| ClinVar | |
|---|---|
| Risk | Rs104894086(A;A) Rs104894086(T;T) |
| Alt | Rs104894086(A;A) Rs104894086(T;T) |
| Reference | Rs104894086(G;G) |
| Significance | Pathogenic |
| Disease | Cholesterol monooxygenase (side-chain cleaving) deficiency |
| Variation | info |
| Gene | STAR |
| CLNDBN | Cholesterol monooxygenase (side-chain cleaving) deficiency |
| Reversed | 1 |
| HGVS | NC_000008.10:g.38003586C>A; NC_000008.10:g.38003586C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009551.2, RCV000009558.2, |
